Silvia Einaudi

Turin, 10126, Italy

Last Updated: 09/26/2026

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Found 17 publications

Genetic Testing for a Patient with Suspected 3 Beta-Hydroxysteroid Dehydrogenase Deficiency: A Case of Unreported Genetic Variants.

Genetic Testing for a Patient with Suspected 3 Beta-Hydroxysteroid Dehydrogenase Deficiency: A Case of Unreported Genetic Variants.

Journal: Journal of clinical medicine

Published: July 30, 2022

Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height.

Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height.

Journal: Frontiers in endocrinology

Published: August 19, 2021

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry.

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry.

Journal: European journal of endocrinology

Published: October 29, 2020

POR polymorphisms are associated with 21 hydroxylase deficiency.

POR polymorphisms are associated with 21 hydroxylase deficiency.

Journal: Journal of endocrinological investigation

Published: August 19, 2020

Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia.

Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 29, 2020

Distribution of plasma copeptin levels and influence of obesity in children and adolescents.

Distribution of plasma copeptin levels and influence of obesity in children and adolescents.

Journal: European journal of pediatrics

Published: April 22, 2020

Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations.

Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations.

Journal: Endocrine

Published: March 28, 2020

Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia.

Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia.

Journal: Hormone research in paediatrics

Published: January 19, 2020

Teriparatide (rhPTH 1-34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism.

Teriparatide (rhPTH 1-34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism.

Journal: Endocrine

Published: August 16, 2019

Severe arterial hypertension and hyperandrogenism in a boy: a rare case of catecholamine- and β-HCG-secreting pheochromocytoma.

Severe arterial hypertension and hyperandrogenism in a boy: a rare case of catecholamine- and β-HCG-secreting pheochromocytoma.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: May 27, 2019

Copeptin role in polyuria-polydipsia syndrome differential diagnosis and reference range in paediatric age.

Copeptin role in polyuria-polydipsia syndrome differential diagnosis and reference range in paediatric age.

Journal: Clinical endocrinology

Published: October 09, 2017

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.

Journal: Italian journal of pediatrics

Published: July 14, 2017

Showing 1-12 of 17

Last Updated: 09/26/2026